Resumo

LIMA-MARTINEZ, Marcos M; ZERPA, José  e  GIL, Victor. Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case. Invest. clín [online]. 2014, vol.55, n.3, pp.260-265. ISSN 0535-5133.

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder due to an abnormal cholesterol synthesis. It was first described by Smith, Lemli and Opitz in 1964. Many cases of SLOS have been described since then, leading to the recognition as a relatively common malformation syndrome. Affected individuals have dysmorphism, microcephaly, multiple congenital malformations, mental retardation, aggressiveness and hyperactivity. The severity of physical defects correlates with the severity of the cholesterol deficiency, which is caused by an abnormally low activity of 7-dehydrocholesterol reductase, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. The occurrence of hypothyroidism in association with SLOS is very unusual. We describe the first Venezuelan case in which both anomalies are associated.

Palavras-chave : Smith-Lemli-Opitz; hypothyroidism; cholesterol; 7-dehydrocholesterol.

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